Mutagenetix > Incidental Mutation

Incidental Mutation 'R7082:Krt14'

549629

Institutional Source

Beutler Lab

Gene Symbol

Krt14

Ensembl Gene

ENSMUSG00000045545

Gene Name

keratin 14

Synonyms

Krt-1.14, K14, Krt1-14, epidermolysis bullosa simplex, Dowling-Meara, Koebner, Cytokeratin 14

MMRRC Submission

045176-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7082 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100093988-100098336 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100094167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 476 (H476Y)

Ref Sequence

ENSEMBL: ENSMUSP00000007272 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007272]

AlphaFold

Q61781

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007272
AA Change: H476Y

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000007272
Gene: ENSMUSG00000045545
AA Change: H476Y

Domain	Start	End	E-Value	Type
low complexity region	10	29	N/A	INTRINSIC
Filament	120	431	5.67e-176	SMART
low complexity region	433	450	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (88/88)

MGI Phenotype

FUNCTION: This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations develop extensive skin blistering after birth and die by 2 days of age. If keratin 16 is also expressed in skin, development is normal but later alopecia, chronic skin ulcers and stratified epithelial defects occur. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	A	T	6: 52,156,260 (GRCm39)	N109Y	unknown	Het
A430005L14Rik	C	T	4: 154,044,221 (GRCm39)	R11W	probably damaging	Het
Aadacl2	T	A	3: 59,932,306 (GRCm39)	S274T	probably damaging	Het
Ahctf1	T	C	1: 179,602,898 (GRCm39)	R887G	probably benign	Het
Aox4	G	T	1: 58,263,352 (GRCm39)	R158L	possibly damaging	Het
Atp10a	T	C	7: 58,308,567 (GRCm39)	I122T	probably damaging	Het
Batf2	G	T	19: 6,221,405 (GRCm39)	A72S	possibly damaging	Het
Bltp3a	G	T	17: 28,109,039 (GRCm39)	R1086L	probably damaging	Het
Bptf	T	C	11: 106,977,573 (GRCm39)	D749G	probably benign	Het
Cacybp	A	G	1: 160,031,229 (GRCm39)	Y200H	probably damaging	Het
Cdc40	A	T	10: 40,743,869 (GRCm39)	V76D	probably benign	Het
Cdc42ep4	T	C	11: 113,619,944 (GRCm39)	D149G	probably benign	Het
Chtop	A	G	3: 90,414,891 (GRCm39)	V9A	probably benign	Het
Cnot9	A	G	1: 74,566,165 (GRCm39)	I185M	probably damaging	Het
Col6a5	A	G	9: 105,808,438 (GRCm39)	I870T	unknown	Het
Cr1l	A	G	1: 194,806,006 (GRCm39)	I159T	probably benign	Het
Cthrc1	T	C	15: 38,940,495 (GRCm39)	S33P	probably benign	Het
Dlg2	T	A	7: 90,381,192 (GRCm39)	W44R	probably benign	Het
Dlgap4	T	C	2: 156,590,342 (GRCm39)		probably null	Het
Dna2	A	G	10: 62,790,096 (GRCm39)	H193R	possibly damaging	Het
Espnl	T	A	1: 91,262,521 (GRCm39)	F322Y	probably benign	Het
Fam171a1	G	A	2: 3,224,512 (GRCm39)	V293I	probably benign	Het
Fam76b	A	G	9: 13,744,308 (GRCm39)	Y135C	probably damaging	Het
Flvcr2	A	T	12: 85,793,728 (GRCm39)	I35F	probably benign	Het
Gm9195	T	A	14: 72,680,152 (GRCm39)	Q2219L	probably benign	Het
Gnptg	T	C	17: 25,453,694 (GRCm39)	T283A	probably benign	Het
Grap2	G	A	15: 80,532,699 (GRCm39)	V289M	probably benign	Het
Hk3	T	C	13: 55,154,710 (GRCm39)	T767A	probably benign	Het
Hs3st5	A	G	10: 36,708,833 (GRCm39)	I123V	probably benign	Het
Il6st	A	G	13: 112,640,566 (GRCm39)	T781A	probably damaging	Het
Inpp5d	T	A	1: 87,623,102 (GRCm39)	H398Q	probably damaging	Het
Kcnk1	A	G	8: 126,722,287 (GRCm39)	Y30C	probably damaging	Het
Klhl6	T	C	16: 19,801,633 (GRCm39)	T41A	probably benign	Het
Lingo3	G	C	10: 80,671,625 (GRCm39)	R102G	probably benign	Het
Map3k9	G	A	12: 81,771,476 (GRCm39)	T704M	probably damaging	Het
Mdn1	C	A	4: 32,762,341 (GRCm39)	N5088K	probably benign	Het
Mmp9	T	A	2: 164,790,812 (GRCm39)	S67T	probably benign	Het
Mrps18c	A	G	5: 100,952,270 (GRCm39)	E143G	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Muc21	A	T	17: 35,932,093 (GRCm39)	S698T	unknown	Het
Nags	C	A	11: 102,038,298 (GRCm39)	R335S	possibly damaging	Het
Nars1	A	G	18: 64,637,425 (GRCm39)	V385A	possibly damaging	Het
Nipal2	A	C	15: 34,584,809 (GRCm39)	V253G	possibly damaging	Het
Nos2	C	A	11: 78,819,405 (GRCm39)	T39K	probably benign	Het
Or10p1	T	A	10: 129,443,416 (GRCm39)	*311Y	probably null	Het
Or10p1	T	A	10: 129,443,417 (GRCm39)	*311L	probably null	Het
Or51t4	T	C	7: 102,598,455 (GRCm39)	V261A	probably damaging	Het
Or52s19	C	A	7: 103,007,495 (GRCm39)	R302L	possibly damaging	Het
Or6c66	C	T	10: 129,461,634 (GRCm39)	V99M	probably benign	Het
Or9s15	G	A	1: 92,524,140 (GRCm39)		probably benign	Het
Panx3	G	A	9: 37,577,913 (GRCm39)	P106S	probably benign	Het
Pappa2	G	A	1: 158,590,689 (GRCm39)	T1655I	possibly damaging	Het
Pcdhb1	A	G	18: 37,400,044 (GRCm39)	D665G	probably damaging	Het
Pde2a	T	C	7: 101,157,303 (GRCm39)	L676P	probably damaging	Het
Pf4	A	G	5: 90,920,851 (GRCm39)	T60A	possibly damaging	Het
Pira12	C	T	7: 3,898,510 (GRCm39)	V313M	probably damaging	Het
Pld5	A	T	1: 175,917,442 (GRCm39)	C164S	probably benign	Het
Psd3	A	T	8: 68,356,800 (GRCm39)	M640K	probably benign	Het
Ptf1a	A	G	2: 19,450,676 (GRCm39)	D2G	possibly damaging	Het
Ptprq	C	T	10: 107,544,591 (GRCm39)	C313Y	probably benign	Het
Ranbp10	A	G	8: 106,500,578 (GRCm39)	S467P	probably damaging	Het
Rap1gap	C	T	4: 137,446,247 (GRCm39)	T333M	probably damaging	Het
Rfpl4	A	G	7: 5,118,558 (GRCm39)	L4P	probably benign	Het
Rgs12	A	G	5: 35,124,050 (GRCm39)	N611S	probably benign	Het
Sacs	C	A	14: 61,447,966 (GRCm39)	N3337K	possibly damaging	Het
Sbno2	A	T	10: 79,895,924 (GRCm39)		probably null	Het
Scrn2	T	A	11: 96,923,908 (GRCm39)	V264E	possibly damaging	Het
Serpinb9c	T	A	13: 33,338,390 (GRCm39)	I198L	probably benign	Het
Shank2	T	C	7: 143,964,096 (GRCm39)	F568S	probably damaging	Het
Slc47a1	C	T	11: 61,268,767 (GRCm39)	R36Q	probably benign	Het
Slc4a8	A	C	15: 100,688,908 (GRCm39)	E406A	probably damaging	Het
Speg	C	T	1: 75,388,091 (GRCm39)	T1483I	probably damaging	Het
Srbd1	A	G	17: 86,365,160 (GRCm39)	V632A	probably damaging	Het
Srd5a2	A	T	17: 74,328,515 (GRCm39)	Y188N	probably damaging	Het
Sspo	A	T	6: 48,455,543 (GRCm39)		probably null	Het
Ssx2ip	A	T	3: 146,136,703 (GRCm39)	D317V	probably benign	Het
Tmco3	G	T	8: 13,370,847 (GRCm39)	E172*	probably null	Het
Trpc4	G	A	3: 54,206,519 (GRCm39)	W573*	probably null	Het
Ttn	T	C	2: 76,580,340 (GRCm39)	I23518V	probably benign	Het
Tubal3	A	G	13: 3,983,050 (GRCm39)	T277A	possibly damaging	Het
Unc5b	A	T	10: 60,610,867 (GRCm39)	L391H	probably damaging	Het
Vmn2r76	A	G	7: 85,874,440 (GRCm39)	F846L	probably benign	Het
Vps13c	T	A	9: 67,790,735 (GRCm39)	Y338N	probably damaging	Het
Zc3hav1	G	T	6: 38,309,328 (GRCm39)	S498*	probably null	Het
Zfand4	T	A	6: 116,305,337 (GRCm39)		probably null	Het
Zfp451	A	T	1: 33,811,972 (GRCm39)		probably null	Het
Zfp607a	A	T	7: 27,578,183 (GRCm39)	I418F	probably damaging	Het
Zfp612	A	G	8: 110,816,337 (GRCm39)	T515A	probably damaging	Het
Zfp708	G	T	13: 67,219,200 (GRCm39)	L208I	possibly damaging	Het

Other mutations in Krt14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01759:Krt14	APN	11	100,095,242 (GRCm39)	splice site	probably benign
R0449:Krt14	UTSW	11	100,098,221 (GRCm39)	missense	unknown
R0848:Krt14	UTSW	11	100,095,090 (GRCm39)	missense	probably damaging	1.00
R1302:Krt14	UTSW	11	100,094,173 (GRCm39)	missense	probably damaging	1.00
R2024:Krt14	UTSW	11	100,098,044 (GRCm39)	missense	unknown
R2088:Krt14	UTSW	11	100,094,949 (GRCm39)	missense	possibly damaging	0.81
R2161:Krt14	UTSW	11	100,097,939 (GRCm39)	missense	unknown
R3878:Krt14	UTSW	11	100,097,915 (GRCm39)	missense	possibly damaging	0.56
R5015:Krt14	UTSW	11	100,098,032 (GRCm39)	nonsense	probably null
R5314:Krt14	UTSW	11	100,095,526 (GRCm39)	missense	probably damaging	1.00
R5474:Krt14	UTSW	11	100,095,571 (GRCm39)	missense	probably damaging	1.00
R5698:Krt14	UTSW	11	100,096,451 (GRCm39)	missense	probably benign	0.44
R5707:Krt14	UTSW	11	100,095,584 (GRCm39)	missense	possibly damaging	0.77
R6072:Krt14	UTSW	11	100,097,992 (GRCm39)	missense	unknown
R6523:Krt14	UTSW	11	100,095,923 (GRCm39)	missense	possibly damaging	0.81
R6622:Krt14	UTSW	11	100,094,786 (GRCm39)	missense	probably benign	0.00
R7239:Krt14	UTSW	11	100,095,081 (GRCm39)	missense	probably benign	0.03
R7350:Krt14	UTSW	11	100,095,926 (GRCm39)	nonsense	probably null
R8055:Krt14	UTSW	11	100,095,584 (GRCm39)	missense	possibly damaging	0.89
R8233:Krt14	UTSW	11	100,094,178 (GRCm39)	missense	probably damaging	0.99
R9043:Krt14	UTSW	11	100,095,464 (GRCm39)	missense	possibly damaging	0.79
R9116:Krt14	UTSW	11	100,095,904 (GRCm39)	missense	probably benign	0.31
R9725:Krt14	UTSW	11	100,097,902 (GRCm39)	missense	probably damaging	0.99
R9784:Krt14	UTSW	11	100,097,966 (GRCm39)	missense	unknown
X0020:Krt14	UTSW	11	100,095,932 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGCAGTGATTGTGCAACTC -3'
(R):5'- ACAGACTGGACTTGCAGCAG -3'

Sequencing Primer
(F):5'- CAGTGATTGTGCAACTCAGAAAAAG -3'
(R):5'- TGGACTTGCAGCAGGGAGTG -3'

Posted On

2019-05-15